Varaico: Literature-Extracted Genetic Variants

Gene:PRB2
Variant:p.Q314K

PRB2

80 papers

RefSeq Summary

This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. The encoded preproprotein undergoes proteolytic processing to generate one or more mature i...

Pfam Domains

Pro-richaa 1–135UCSCProline-rich protein
Pro-richaa 318–416UCSCProline-rich protein

Gene Aliases

HGNC Name

proline rich protein BstNI subfamily 2

HGNC Alias Symbols

PRPPRB1; Ps; cP7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006248.4
p.Q314K
c.940C>A
Surrounding Variants
1 paper
NM_006248.4
p.P315P
c.945T>C
1 paper
NM_006248.4
p.P321P
c.963T>A
1 paper
NM_006248.4
p.R295L
c.884G>T
1 paper
NM_006248.4
p.S292fs
c.874_875fs
1 paper
NM_006248.4
p.S292delFs
c.875delC
1 paper
NM_006248.4
p.S292I
c.875G>T
3 papers
NM_006248.4
p.P336S
c.1006C>T
1 paper
NM_006248.4
p.G291V
c.872G>T
1 paper
NM_006248.4
p.P341_P342ins0
c.1023_1025dupTCC
1 paper
NM_006248.4
p.P283S
c.847C>T
1 paper
NM_006248.4
p.P279_P280insTCT
c.835_839ins9
2 papers
NM_006248.4
p.P350A
c.1048C>G
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